Aliases for RAPGEFL1 Gene

Aliases for RAPGEFL1 Gene

  • Rap Guanine Nucleotide Exchange Factor Like 1 2 3 5
  • Link Guanine Nucleotide Exchange Factor II 2 3 4
  • Rap Guanine Nucleotide Exchange Factor (GEF)-Like 1 2 3
  • Rap Guanine Nucleotide Exchange Factor-Like 1 3 4
  • Link-GEFII 2 3
  • Link GEFII 3 4
  • RAP Guanine-Nucleotide-Exchange Factor (GEF)-Like 1 2
  • RAPGEFL1 5

External Ids for RAPGEFL1 Gene

Previous GeneCards Identifiers for RAPGEFL1 Gene

  • GC17P038710
  • GC17P035588
  • GC17P038333
  • GC17P034127

Summaries for RAPGEFL1 Gene

GeneCards Summary for RAPGEFL1 Gene

RAPGEFL1 (Rap Guanine Nucleotide Exchange Factor Like 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and obsolete signal transducer activity, downstream of receptor. An important paralog of this gene is RAPGEF4.

UniProtKB/Swiss-Prot Summary for RAPGEFL1 Gene

Additional gene information for RAPGEFL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAPGEFL1 Gene

Genomics for RAPGEFL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAPGEFL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAPGEFL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAPGEFL1

Top Transcription factor binding sites by QIAGEN in the RAPGEFL1 gene promoter:
  • ATF-2
  • Brachyury
  • CRE-BP1
  • Egr-3
  • Lmo2
  • p300
  • p53
  • Pax-5
  • SEF-1 (1)
  • TBP

Genomic Locations for RAPGEFL1 Gene

Genomic Locations for RAPGEFL1 Gene
chr17:40,177,010-40,195,656
(GRCh38/hg38)
Size:
18,647 bases
Orientation:
Plus strand
chr17:38,333,263-38,351,908
(GRCh37/hg19)
Size:
18,646 bases
Orientation:
Plus strand

Genomic View for RAPGEFL1 Gene

Genes around RAPGEFL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAPGEFL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAPGEFL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAPGEFL1 Gene

Proteins for RAPGEFL1 Gene

  • Protein details for RAPGEFL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHV5-RPGFL_HUMAN
    Recommended name:
    Rap guanine nucleotide exchange factor-like 1
    Protein Accession:
    Q9UHV5

    Protein attributes for RAPGEFL1 Gene

    Size:
    662 amino acids
    Molecular mass:
    73265 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG36274.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAPGEFL1 Gene

    Alternative splice isoforms for RAPGEFL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAPGEFL1 Gene

Post-translational modifications for RAPGEFL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAPGEFL1 Gene

Domains & Families for RAPGEFL1 Gene

Gene Families for RAPGEFL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAPGEFL1 Gene

InterPro:
Blocks:
  • Guanine-nucleotide dissociation stimulator CDC25
ProtoNet:

Suggested Antigen Peptide Sequences for RAPGEFL1 Gene

GenScript: Design optimal peptide antigens:
  • Link guanine nucleotide exchange factor II (RPGFL_HUMAN)
genes like me logo Genes that share domains with RAPGEFL1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RAPGEFL1 Gene

Function for RAPGEFL1 Gene

Molecular function for RAPGEFL1 Gene

UniProtKB/Swiss-Prot Function:
Probable guanine nucleotide exchange factor (GEF).

Phenotypes From GWAS Catalog for RAPGEFL1 Gene

Gene Ontology (GO) - Molecular Function for RAPGEFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with RAPGEFL1: view
genes like me logo Genes that share phenotypes with RAPGEFL1: view

Animal Models for RAPGEFL1 Gene

MGI Knock Outs for RAPGEFL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAPGEFL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAPGEFL1 Gene

Localization for RAPGEFL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAPGEFL1 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAPGEFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane TAS --
genes like me logo Genes that share ontologies with RAPGEFL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RAPGEFL1 Gene

Pathways & Interactions for RAPGEFL1 Gene

PathCards logo

SuperPathways for RAPGEFL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RAPGEFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007399 nervous system development TAS --
genes like me logo Genes that share ontologies with RAPGEFL1: view

No data available for Pathways by source and SIGNOR curated interactions for RAPGEFL1 Gene

Drugs & Compounds for RAPGEFL1 Gene

(3) Drugs for RAPGEFL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RAPGEFL1: view

Transcripts for RAPGEFL1 Gene

mRNA/cDNA for RAPGEFL1 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAPGEFL1

Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEFL1 Gene

No ASD Table

Relevant External Links for RAPGEFL1 Gene

GeneLoc Exon Structure for
RAPGEFL1

Expression for RAPGEFL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAPGEFL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAPGEFL1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x7.4), Skin - Not Sun Exposed (Suprapubic) (x7.0), and Esophagus - Mucosa (x6.3).

Protein differential expression in normal tissues from HIPED for RAPGEFL1 Gene

This gene is overexpressed in Esophagus (39.2) and Heart (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RAPGEFL1 Gene



Protein tissue co-expression partners for RAPGEFL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAPGEFL1

SOURCE GeneReport for Unigene cluster for RAPGEFL1 Gene:

Hs.632254

Evidence on tissue expression from TISSUES for RAPGEFL1 Gene

  • Nervous system(3.6)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with RAPGEFL1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAPGEFL1 Gene

Orthologs for RAPGEFL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAPGEFL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAPGEFL1 30 31
  • 99.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAPGEFL1 30 31
  • 92.91 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAPGEFL1 30 31
  • 92.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rapgefl1 30 17 31
  • 89.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rapgefl1 30
  • 88.43 (n)
Oppossum
(Monodelphis domestica)
Mammalia RAPGEFL1 31
  • 65 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAPGEFL1 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rapgefl1 30
  • 68.57 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100149497 30
  • 63.33 (n)
RAPGEFL1 31
  • 45 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Epac 31
  • 16 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea epac-1 31
  • 13 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 17 (a)
OneToMany
Species where no ortholog for RAPGEFL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RAPGEFL1 Gene

ENSEMBL:
Gene Tree for RAPGEFL1 (if available)
TreeFam:
Gene Tree for RAPGEFL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAPGEFL1: view image

Paralogs for RAPGEFL1 Gene

(5) SIMAP similar genes for RAPGEFL1 Gene using alignment to 6 proteins:

  • RPGFL_HUMAN
  • F5GXC6_HUMAN
  • F5GY17_HUMAN
  • F5GYJ3_HUMAN
  • F5H2D5_HUMAN
  • F5H582_HUMAN
genes like me logo Genes that share paralogs with RAPGEFL1: view

Variants for RAPGEFL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAPGEFL1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs864622033 Uncertain Significance: Malignant tumor of prostate 40,188,883(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RAPGEFL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RAPGEFL1 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159
nsv525796 CNV gain 19592680
nsv833444 CNV loss 17160897

Variation tolerance for RAPGEFL1 Gene

Residual Variation Intolerance Score: 46.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAPGEFL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAPGEFL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAPGEFL1 Gene

Disorders for RAPGEFL1 Gene

No disorders were found for RAPGEFL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAPGEFL1 Gene

Publications for RAPGEFL1 Gene

  1. Screening aberrant methylation profile in esophageal squamous cell carcinoma for Kazakhs in Xinjiang area of China. (PMID: 25304811) Chen Y … Tian W (Molecular biology reports 2015) 3
  2. Estimation of the fraction of cancer cells in a tumor DNA sample using DNA methylation. (PMID: 24312652) Takahashi T … Ushijima T (PloS one 2013) 3
  3. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3
  5. Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1. (PMID: 20706999) Brieger A … Trojan J (Proteomics 2010) 3

Products for RAPGEFL1 Gene

Sources for RAPGEFL1 Gene